Canonical Allele Identifier: CA10436291
Gene: AR HGNC NCBI

Linked Data

ClinVar Variation Id: 2946611
ClinVar RCV Id: RCV003808849
dbSNP Id: rs779587405
gnomAD v2: X-66765581-A-T
gnomAD v4: X-67545739-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.67545739A>T , CM000685.2:g.67545739A>T GRCh38
NC_000023.10:g.66765581A>T , CM000685.1:g.66765581A>T GRCh37
NC_000023.9:g.66682306A>T NCBI36
NG_009014.2:g.6708A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396043.4:c.593A>T ENSP00000379358.4:p.Gln198Leu
ENST00000374690.9:c.593A>T MANE Select ENSP00000363822.3:p.Gln198Leu
ENST00000396044.8:c.593A>T ENSP00000379359.3:p.Gln198Leu
ENST00000612452.5:c.593A>T ENSP00000484033.2:p.Gln198Leu
ENST00000374690.7:c.593A>T ENSP00000363822.3:p.Gln198Leu
ENST00000396044.7:c.593A>T ENSP00000379359.3:p.Gln198Leu
ENST00000504326.5:c.593A>T ENSP00000421155.1:p.Gln198Leu
ENST00000513847.5:n.920A>T
ENST00000514029.5:c.593A>T ENSP00000425199.1:p.Gln198Leu
ENST00000612010.4:c.593A>T ENSP00000482407.1:p.Gln198Leu
ENST00000612452.4:c.23A>T ENSP00000484033.1:p.Gln8Leu
ENST00000613054.2:c.593A>T ENSP00000479013.1:p.Gln198Leu
NM_000044.3:c.593A>T NP_000035.2:p.Gln198Leu
NM_000044.4:c.593A>T NP_000035.2:p.Gln198Leu
NM_001011645.3:c.-1191A>T NP_001011645.1:n.-1191A>T
NM_001348061.1:c.593A>T NP_001334990.1:p.Gln198Leu
NM_001348063.1:c.593A>T NP_001334992.1:p.Gln198Leu
NM_001348064.1:c.593A>T NP_001334993.1:p.Gln198Leu
NM_000044.6:c.593A>T MANE Select NP_000035.2:p.Gln198Leu